Inherited mechanical fragility of the skin and epithelial tissues.
Presents as recurrent erosions, blisters, and scars.
Risk of extracutaneous complications, resulting from recurrent blistering or scarring of tissues.
Risk of infant or premature death among some epidermolysis bullosa subtypes.
High risk of death from metastatic squamous cell carcinoma during adulthood in some epidermolysis bullosa subtypes.
Epidermolysis bullosa (EB) includes >30 inherited conditions characterized by mechanical fragility of skin and epithelial-lined tissues. EB is subclassified by the ultrastructural level within which blisters arise in the skin, clinical phenotype, and genotype. EB results from mutations within genes encoding for any of at least 20 different structural skin proteins. People with the more severe subtypes are at risk of premature death, including death from metastatic squamous cell carcinoma, renal failure, upper airway occlusion, or sepsis.
History and exam
- positive family history of EB
- mechanical fragility of the skin
- recurrent blisters and erosions
- poorly healing wounds
- onset of cutaneous signs at birth or early infancy
- resolution of blistering within the first 1-2 years of life
- generalized or localized distribution of skin involvement
- combination of milia, scarring, and dystrophic nails
- absence of milia, scarring, and dystrophic nails
- exuberant granulation tissue
- herpetiform blistering
- enamel hypoplasia
- reticulate hyperpigmentation
- muscular dystrophy
- tracheolaryngeal stenosis or stricture
- severe upper airway disease
- onset in mid or late childhood
- inverse (intertriginous), acral, or centripetal distribution of skin involvement
- severe cardiomyopathy
Jo-David Fine, MD, MPH, FRCP
Professor of Dermatology and Pediatrics
Vanderbilt University School of Medicine
National Epidermolysis Bullosa Registry
J-DF is an author of a number of references cited in this topic.
Helmut Hintner, MD
Professor and Chair
Department of Dermatology
Paracelsus Private Medical School
HH is an author of a reference cited in this topic.
Nanette Silverberg, MD
Clinical Professor of Dermatology
Columbia University College of Physicians and Surgeons
New York City
NS declares that she has no competing interests.
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